Relação da hipofosfatasia com alterações na cavidade oral: revisão narrativa [PDF]
, 2022 A hipofosfatasia (HPP) é uma doença genética rara descoberta em 1948, causada por mutações no gene ALPL. Este gene codifica a enzima fosfatase alcalina não específica de tecido (TNSALP).
Bouafia, Firdaws El Ataoui
core
Hypophosphatasia in childhood: Diagnosis to management
Osteoporosis and SarcopeniaHypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
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A Hidden Cause of Bone Fragility: Late Diagnosis of Hypophosphatasia in a 40-Year-Old Female [PDF]
Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Hassan, Ahmed +4 more
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Tratamento de hipofosfatasia com a enzima asfotase alfa, uma revisão da literatura [PDF]
, 2019 Trabalho de Conclusão de Curso (graduação)—Universidade de Brasília, Faculdade de Ciências da Saúde, Departamento de Farmácia, 2019.A hipofosfatasia, também conhecida como doença de Rathbun, é uma doença genética rara, sem cura, que acomete ...
Shiratori, Vitor Akira Arake
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Childhood hypophosphatasia: to treat or not to treat
Orphanet Journal of Rare Diseases, 2018 Background Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the
Eric T. Rush
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The biochemistry of mineralizing extracellular vesicles. Part I: The role of phosphatases [PDF]
In this chapter, we will review some of the information regarding the functional significance of the inorganic phosphate (Pi)/pyrophosphate (PPi) ratio for physiological mineralization of hard tissues.
Amadeu De Oliveira, Flavia +10 more
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The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data [PDF]
Introduction: Hypophosphatasia (HPP) is an inherited, metabolic, rare disease characterized by a high level of clinical heterogeneity. In response to this robust heterogeneity, the Global HPP Registry was formed to characterize the types of ...
Burke, Luke K. +14 more
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Disagreements Within the US Food and Drug Administration Regarding Approval of Novel Therapeutic Agents, 2011-2015 [PDF]
, 2020 Thirty days after a novel therapeutic agent, a new molecular entity, or original biologic is approved, the US Food and Drug Administration (FDA) must publicly disclose its approval package, including scientific reviews completed by FDA disciplines (eg ...
Herder, Matthew +4 more
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US Food and Drug Administration Approvals of Drugs and Devices Based on Nonrandomized Clinical Trials: A Systematic Review and Meta-analysis [PDF]
, 2019 Chalmers, Iain +5 more
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Asfotase alfa improved skeletal mineralization and fracture healing in a child with MCAHS. [PDF]
Bone, 2023 Kang M, Wu M, Crane JL.
europepmc +1 more source